Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CD
Variant:p.D447Splc
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PIK3CD

NM_005026.5:p.D447Splc

Associated Papers

Clinical and genetic findings of individuals tested using the navigateAPDS genetic testing program.

Campbell E et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2026

Two cases of successful sirolimus treatment for patients with activated phosphoinositide 3-kinase δ syndrome 1.

Jiang L et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2023

The First Iranian Cohort of Pediatric Patients with Activated Phosphoinositide 3-Kinase-δ (PI3Kδ) Syndrome (APDS).

Fekrvand S et al.

Immunological Investigations, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."